Facial clefting in Tp63 deficient mice results from altered Bmp4, Fgf8 and Shh signaling
نویسندگان
چکیده
منابع مشابه
Epidemiology of facial clefting.
An analysis was performed of patients with facial clefts notified between 1960 and 1982 to the Liverpool Congenital Malformations Registry. From 1960-82 there were 325 727 births in the area surveyed and 544 cases of facial clefting were notified. When 88 patients with recognised syndromes and multiple congenital anomalies were excluded, the overall prevalence of facial clefts alone was 1.4 per...
متن کاملCholesterol precursors and facial clefting.
Inborn errors of cholesterol synthesis cause human malformation syndromes, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata type 2, and congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Because adequate cholesterol is not transported across the placenta, low cholesterol and elevated sterol precursor leve...
متن کاملSyndactyly of Ft/+ mice correlates with an imbalance in Bmp4 and Fgf8 expression
The most obvious phenotype of Ft/+ mice is a syndactyly of fore limbs characterised by a fusion of the tips of digits 1 to 4. The tempospatial expression of genes involved in limb development revealed that patterning of Ft/+ limb buds is not affected by the mutation. However, an upregulation of Bmp4 in the anterior-distal region of the limb bud at d12.0 of embryonic development is accompanied b...
متن کاملSevere facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatin.
Insig-1 and Insig-2 are regulatory proteins that restrict the cholesterol biosynthetic pathway by preventing proteolytic activation of SREBPs and by enhancing degradation of HMG-CoA reductase. Here, we created Insig-double-knockout (Insig-DKO) mice that are homozygous for null mutations in Insig-1 and Insig-2. After 18.5 days of development, 96% of Insig-DKO embryos had defects in midline facia...
متن کاملTriophthalmia and facial clefting: a case report.
We describe a Libyan boy with an unusual phenotype of multiple congenital anomalies, including triophthalmia, dolichocephaly, porencephaly, cleft lip/palate, facial asymmetry, micrognathia, and VSD. The reported phenotype is likely to represent a new entity of non-chromosomal syndromic triophthalmia. Other possibilities are discussed.
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ژورنال
عنوان ژورنال: Developmental Biology
سال: 2008
ISSN: 0012-1606
DOI: 10.1016/j.ydbio.2008.06.030